Varaico: Literature-Extracted Genetic Variants

Gene:AHSA1
Variant:p.R275W
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AHSA1

NM_012111.3:p.R275W

Associated Papers

Increased Stroke Risk in Patients with Parkinson's Disease with LRRK2 Mutations.

Macías-García D et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

34859503 (PubMed )
Supplement: supplement_1.docx

Multitasking guardian of mitochondrial quality: Parkin function and Parkinson's disease.

Kamienieva I et al.

Translational Neurodegeneration, 2021

Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson's Disease.

Oczkowska A et al.

Current Genomics, 2013

Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin.

Sriram SR et al.

Human Molecular Genetics, 2005

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."